Mental retardation, growth retardation, unusual nose, and open mouth: An autosomal recessive entity
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference9 articles.
1. Allelic heterogeneity in inbred populations: The Saudi experience with Alstrom syndrome as an illustrative example;Aldahmesh;Am J Med Genet Part A,2009
2. Diagnostic yield of the comprehensive assessment of developmental delay/mental retardation in an institute of child neuropsychiatry;Battaglia;Am J Med Genet,1999
3. Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: The Dutch experience;Bhuiyan;J Med Genet,2006
4. Confirmation of the Cohen syndrome;Carey;J Pediatr,1978
5. Cephalometric norms for Saudi adults living in the western region of Saudi Arabia;Hassan;Angle Orthod,2006
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